Hunter syndrome

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Mucopolysaccharidosis type II, Iduronate sulfatase deficiency

There is no cure for Hunter syndrome. A specific treatment is being developed called enzyme replacement therapy. However, it is experimental and may not be able to prevent neurologic disease from getting worse. Individual problems should be addressed separately. Bone marrow transplant has been attempted for the early-onset form with variable results.

Life expectancy for the early-onset form (severe form) is 10-20 years. Life expectancy for the late-onset form (mild form) is 20-60 years.

• Airway obstruction in late-onset form (mild form)
• Worsening mental deterioration in early-onset, severe form
• Worsening loss of activities of daily living in early-onset, severe form
• Worsening hearing loss in both mild and severe forms
• Worsening joint stiffness leading to contractures of joints in early-onset, severe form
• Carpal tunnel syndrome

Call your health care provider if you or your child manifest a group of these symptoms, or if you know you are a genetic carrier and are considering having children.

Review Date: 08/11/2006
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.